SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17395707T= , CM000673.2:g.17395707T= | GRCh38 |
| NC_000011.9:g.17417254T= , CM000673.1:g.17417254T= | GRCh37 |
| NC_000011.8:g.17373830T= | NCBI36 |
| NG_008867.1:g.86196A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3811A= | ||
| ENST00000528374.2:c.801A= | ||
| ENST00000529967.6:n.2549A= | ||
| ENST00000532220.2:n.3443A= | ||
| ENST00000642611.2:n.5543A= | ||
| ENST00000644057.2:n.786A= | ||
| ENST00000645004.2:n.1709A= | ||
| ENST00000682051.1:n.4372A= | ||
| ENST00000682110.1:n.4425A= | ||
| ENST00000682140.1:c.4076A= | ENSP00000507829.1:p.His1359= | |
| ENST00000682185.1:n.5515A= | ||
| ENST00000682204.1:c.*2348A= | ENSP00000507094.1:n.*2348A= | |
| ENST00000682215.1:n.4792A= | ||
| ENST00000682288.1:c.*2641A= | ENSP00000507506.1:n.*2641A= | |
| ENST00000682442.1:n.4645A= | ||
| ENST00000682528.1:n.4502A= | ||
| ENST00000682673.1:n.4369A= | ||
| ENST00000682805.1:n.4830A= | ||
| ENST00000682965.1:c.*632A= | ENSP00000508229.1:n.*632A= | |
| ENST00000683093.1:n.5509A= | ||
| ENST00000683136.1:c.4093A= | ENSP00000507768.1:p.Ile1365= | |
| ENST00000683153.1:n.4467A= | ||
| ENST00000683365.1:n.4527A= | ||
| ENST00000683377.1:n.4425A= | ||
| ENST00000683456.1:c.*1347A= | ENSP00000508318.1:n.*1347A= | |
| ENST00000683522.1:n.4425A= | ||
| ENST00000683562.1:c.*2379A= | ENSP00000508265.1:n.*2379A= | |
| ENST00000683693.1:n.5990A= | ||
| ENST00000683725.1:c.4210A= | ENSP00000507496.1:p.Ile1404= | |
| ENST00000684010.1:n.4420A= | ||
| ENST00000684157.1:n.5410A= | ||
| ENST00000684253.1:n.4328A= | ||
| ENST00000684288.1:c.*2382A= | ENSP00000507143.1:n.*2382A= | |
| ENST00000684313.1:n.3857A= | ||
| ENST00000684332.1:n.4498A= | ||
| ENST00000684371.1:n.4531A= | ||
| ENST00000684404.1:n.5453A= | ||
| ENST00000684442.1:n.4649A= | ||
| ENST00000684555.1:c.*2422A= | ENSP00000507705.1:n.*2422A= | |
| ENST00000684571.1:c.4051A= | ENSP00000506935.1:p.Ile1351= | |
| ENST00000684593.1:c.*3915A= | ENSP00000507005.1:n.*3915A= | |
| ENST00000684711.1:c.*2606A= | ENSP00000506841.1:n.*2606A= | |
| ENST00000302539.9:c.4213A= | ENSP00000303960.4:p.Ile1405= | |
| ENST00000389817.8:c.4210A= MANE Select | ENSP00000374467.4:p.Ile1404= | |
| ENST00000642271.1:c.4207A= | ENSP00000493749.1:p.Ile1403= | |
| ENST00000642579.1:c.2264A= | ||
| ENST00000642611.1:n.5428A= | ||
| ENST00000642902.1:c.3992A= | ||
| ENST00000643260.1:c.4210A= | ENSP00000494450.1:p.Ile1404= | |
| ENST00000643562.1:c.*2332A= | ENSP00000496124.1:n.*2332A= | |
| ENST00000643925.1:c.2850A= | ||
| ENST00000644057.1:n.287A= | ||
| ENST00000644484.1:c.*3596A= | ENSP00000493558.1:n.*3596A= | |
| ENST00000644675.1:c.*2382A= | ENSP00000494567.1:n.*2382A= | |
| ENST00000644757.1:c.*3202+557A= | ENSP00000495085.1:n.*3202+557A= | |
| ENST00000644772.1:c.4276A= | ENSP00000494321.1:p.Ile1426= | |
| ENST00000645004.1:n.1903A= | ||
| ENST00000645076.1:c.3409A= | ||
| ENST00000645417.1:c.1398A= | ||
| ENST00000645744.1:c.*3964-69A= | ENSP00000494564.1:n.*3964-69A= | |
| ENST00000645760.1:c.4631A= | ||
| ENST00000645884.1:c.*1493A= | ENSP00000495516.1:n.*1493A= | |
| ENST00000646003.1:c.*2301-69A= | ENSP00000495259.1:n.*2301-69A= | |
| ENST00000646207.1:c.*3047A= | ENSP00000495025.1:n.*3047A= | |
| ENST00000646276.1:c.*3614A= | ENSP00000496070.1:n.*3614A= | |
| ENST00000646592.1:c.3516A= | ||
| ENST00000646902.1:c.4177A= | ENSP00000494101.1:p.Ile1393= | |
| ENST00000646993.1:c.*2752A= | ENSP00000493720.1:n.*2752A= | |
| ENST00000647013.1:c.4216A= | ENSP00000496741.1:n.4216A= | |
| ENST00000647015.1:c.3961A= | ENSP00000495389.1:p.Ile1321= | |
| ENST00000647086.1:c.*3796A= | ENSP00000493677.1:n.*3796A= | |
| ENST00000647158.1:c.*2497A= | ENSP00000495744.1:n.*2497A= | |
| ENST00000302539.8:c.4213A= | ENSP00000303960.4:p.Ile1405= | |
| ENST00000389817.7:c.4210A= | ENSP00000374467.3:p.Ile1404= | |
| ENST00000525022.1:n.209A= | ||
| ENST00000526037.5:n.74A= | ||
| ENST00000526168.5:c.67-69A= | ||
| ENST00000531642.5:c.46A= | ||
| NM_000352.4:c.4210A= | NP_000343.2:p.Ile1404= | |
| NM_001287174.1:c.4213A= | NP_001274103.1:p.Ile1405= | |
| XM_011520331.1:c.4210A= | XP_011518633.1:p.Ile1404= | |
| XM_011520332.1:c.4213A= | XP_011518634.1:p.Ile1405= | |
| XM_011520333.1:c.2710A= | XP_011518635.1:p.Ile904= | |
| XR_930890.1:n.4276A= | ||
| NM_001351295.1:c.4276A= | NP_001338224.1:p.Ile1426= | |
| NM_001351296.1:c.4210A= | NP_001338225.1:p.Ile1404= | |
| NM_001351297.1:c.4207A= | NP_001338226.1:p.Ile1403= | |
| NR_147094.1:n.4505A= | ||
| XM_017018197.2:c.4279A= | XP_016873686.1:p.Ile1427= | |
| XM_017018199.1:c.4276A= | XP_016873688.1:p.Ile1426= | |
| XM_017018201.2:c.4279A= | XP_016873690.1:p.Ile1427= | |
| XM_017018202.1:c.2776A= | XP_016873691.1:p.Ile926= | |
| XM_017018204.1:c.2167A= | XP_016873693.1:p.Ile723= | |
| XM_024448668.1:c.2578A= | XP_024304436.1:p.Ile860= | |
| XR_001747945.2:n.4351A= | ||
| XR_001747946.2:n.4282A= | ||
| XR_002957189.1:n.6065A= | ||
| NM_000352.6:c.4210A= MANE Select | NP_000343.2:p.Ile1404= | |
| NM_001287174.2:c.4213A= | NP_001274103.1:p.Ile1405= | |
| NM_001351295.2:c.4276A= | NP_001338224.1:p.Ile1426= | |
| NM_001351296.2:c.4210A= | NP_001338225.1:p.Ile1404= | |
| NM_001351297.2:c.4207A= | NP_001338226.1:p.Ile1403= | |
| NR_147094.2:n.4505A= | ||
| NM_001287174.3:c.4213A= | NP_001274103.1:p.Ile1405= |